ADNP
- Known as:
- ADNP
- Catalog number:
- 001225A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- ADNP
Related genes to: ADNP
- Gene:
- ADNP NIH gene
- Name:
- activity dependent neuroprotector homeobox
- Previous symbol:
- -
- Synonyms:
- KIAA0784, ADNP1
- Chromosome:
- 20q13.13
- Locus Type:
- gene with protein product
- Date approved:
- 2001-05-31
- Date modifiied:
- 2018-05-10
Related products to: ADNP
Related articles to: ADNP
- The principle that form follows function has long guided thinking in biology and architecture alike. In the nervous system, however, form does more than reflect function: neuronal morphology actively constrains input patterns, synaptic integration, and circuit wiring. During postnatal neurodevelopment, dendritic architectures are assembled and remodeled through genetically encoded programs and activities, transforming molecular programs into circuit architecture. However, dendritic morphogenesis has been difficult to quantify at scale while systematically testing how genetic variants, including neurodevelopmental disorder (NDD) risk genes, alter these structures . We developed Perturb-CLEAR, which integrates pooled CRISPR screening and whole-mount imaging to quantify brain-wide cytoarchitecture, and paired it with Perturb-seq to link structural phenotypes to transcriptomic changes. Applying Perturb-CLEAR to the developing mouse cortex revealed morphogenesis trajectories accompanied by transcriptomic dynamics. Moreover, systematic perturbation of NDD risk genes uncovered gene-specific multimodal phenotypes. perturbation remodels basal dendrites in L4/5 IT (intratelencephalic) neurons but not other dendritic compartments or cell types, alongside consistent transcriptional shifts. Combined morphology and transcriptome analyses link NDD risk genes to concordant multimodal cellular phenotypes in the developing brain, highlighting diverse paths of perturbation effect propagation across modalities. - Source: PubMed
Publication date: 2026/04/08
Wu BoliSimmons Sean KKim SeoyeonLi JiwenAkram Masood APark Chang SinZheng XinheMendez IainPatel SashaChau AlanBurciu NadiaDayal PranayNyasulu ThokozileHuynh NhanClarke Grace SYang X WilliamLevin Joshua ZJin Xin - Nasopharyngeal cancer (NPC) is a malignancy of the nasopharyngeal mucosal epithelium. Primary and secondary metastases in nasopharyngeal cancer are generally prevalent in the bones. Gene expression plays a critical role in regulating fundamental cellular processes in cancer cells, including metastasis. - Source: PubMed
Cahyanur RahmatIrawan CosphiadiRachmadi LisnawatiAdham MarlindaKamal Achmad FauziHandoyo Utomo Achmad RusdanHardianti Mardiah SuciSalamah ThariqahMansyur Muchtaruddin - Autism spectrum disorder (ASD) is a neurodevelopmental condition that occurs in early childhood, characterized by a broad range of clinical manifestations and impairments in social communication. It represents one of the most prevalent neurodevelopmental disorders, affecting approximately 1% of the general population. The phenotypic heterogeneity of ASD arises from different genetic causes, including chromosomal abnormalities, copy number variants (CNVs), and single-nucleotide variants (SNVs), which may occur as de novo or inherited events. Moreover, the polygenic and multifactorial nature of ASD, together with epigenetic regulation and environmental influences, contributes substantially to its complex genetic architecture. Molecular diagnosis remains challenging and relies on multiple genomic approaches, such as array comparative genomic hybridization (array-CGH), whole-exome sequencing (WES), and whole-genome sequencing (WGS); however, the diagnostic yields of these methods remain limited, reflecting the complexity of ASD's genetic architecture. Notably, ASD-associated genes converge on key biological pathways, particularly those involved in transcriptional regulation, chromatin remodeling, synaptic function, and neuronal signaling. These include well-established risk genes such as , , , , , , , , and , among others. This review summarizes the current knowledge on the genetic basis of ASD, highlighting key aspects of its complex genetic architecture. By integrating evidence from major clinical and research databases, it provides a clearer understanding of the underlying mechanisms, supporting improved diagnosis and future research and therapeutic strategies. - Source: PubMed
Publication date: 2026/04/04
Treccarichi SimoneVinci MirellaVirgillito MiriamMusumeci AntoninoBruno FrancescaPapa CarlaGalati Rando RosannaMarano PietroGreco DonatellaFallea AntonioBrancato DesireeCalì SiriaGarcia GresheenFederico ConcettaSaccone SalvatoreCalì Francesco - Diabetic keratopathy (DK) is a severe complication of diabetes mellitus characterized by corneal epithelial barrier dysfunction. Although the vascular endothelial growth factor (VEGF) is known to compromise barrier integrity in the retina, its specific role in DK pathogenesis remains to be fully elucidated. In the present study, we investigated the protective role of activity-dependent neuroprotective protein (ADNP), to counteract hyperglycemia-induced corneal damage. Initially, ADNP and VEGF expression were analyzed in the corneas of streptozotocin-injected diabetic rats. Results showed a downregulation of ADNP immunoreactivity with a concomitant upregulation of VEGF signal in STZ-injected cornea as compared to controls. Subsequently, rabbit corneal epithelial cells (SIRC) were cultured under high-glucose (HG) conditions in an Air-Liquid Interface (ALI) system to mimic the stratified corneal epithelium. Our results demonstrated that HG conditions induced corneal epithelial impairment, characterized by decreased TEER values and the downregulation of the tight junction (TJ) proteins, such as occludin and ZO-1. The exogenous administration of NAP (the smallest active fragment of ADNP) rescued barrier function by increasing TJ expression and restoring TEER values. Furthermore, NAP counteracted the HG-induced loss of EB1 and Tau, two microtubule-associated proteins, suggesting a key role in stabilizing the microtubule network. NAP antagonizes the effects of VEGF, which otherwise triggers the internalization of EB1 and Tau, leading to microtubule disruption. Moreover, we demonstrated that NAP significantly enhanced the wound-healing capacity of SIRC cells, which was severely impaired by hyperglycemic conditions. Overall, our findings demonstrate that ADNP preserves corneal epithelial integrity and promotes wound repair by stabilizing the cytoskeletal-junctional complex. - Source: PubMed
Publication date: 2026/04/07
Maugeri GraziaD'Amico Agata GraziaPalmeri NicolettaPricoco ElisabettaBucolo ClaudioD'Agata Velia - Activity-dependent neuroprotective protein (ADNP) is a critical regulator of neurodevelopment, and most pathogenic variants reported in Helsmoortel–Van der Aa syndrome (HVDAS) are truncating variants. In contrast, the functional consequences of ADNP missense variants remain largely unclear. We integrated an ADNP variant cohort in China with variants recorded in the NCBI ClinVar database, revealing a major gap in the interpretation of ADNP missense variants. - Source: PubMed
Publication date: 2026/04/06
Chen QiLiu XixiWu MengnanSun DaijingDing XingyuZhou MenglingPeng WenzhuCheng YanXue BiqingTang NingXu GangTai YilinXu QiongXiong ManJiang Yan